Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR

Autores
Rossetti, Liliana Carmen; Radic, Claudia Pamela; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
Fil: Rossetti, Liliana Carmen. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Materia
F8
HEMA
INTRON 22 INVERSIONS
IS-PCR
LD-PCR
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/84639
Acceder
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCRRossetti, Liliana CarmenRadic, Claudia PamelaAbelleyro, Miguel MartinLarripa, Irene Beatrizde Brasi, Carlos DanielF8HEMAINTRON 22 INVERSIONSIS-PCRLD-PCRhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.Fil: Rossetti, Liliana Carmen. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaMolecular Diversity Preservation International2011-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/84639Rossetti, Liliana Carmen; Radic, Claudia Pamela; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel; Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR; Molecular Diversity Preservation International; International Journal of Molecular Sciences; 12; 10; 10-2011; 7271-72851422-0067CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.mdpi.com/journal/ijmsinfo:eu-repo/semantics/altIdentifier/doi/10.3390/ijms12107271info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:56:08Zoai:ri.conicet.gov.ar:11336/84639instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:56:08.903CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
title Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
spellingShingle Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
Rossetti, Liliana Carmen
F8
HEMA
INTRON 22 INVERSIONS
IS-PCR
LD-PCR
title_short Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
title_full Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
title_fullStr Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
title_full_unstemmed Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
title_sort Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
dc.creator.none.fl_str_mv Rossetti, Liliana Carmen
Radic, Claudia Pamela
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author Rossetti, Liliana Carmen
author_facet Rossetti, Liliana Carmen
Radic, Claudia Pamela
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author_role author
author2 Radic, Claudia Pamela
Abelleyro, Miguel Martin
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author2_role author
author
author
author
dc.subject.none.fl_str_mv F8
HEMA
INTRON 22 INVERSIONS
IS-PCR
LD-PCR
topic F8
HEMA
INTRON 22 INVERSIONS
IS-PCR
LD-PCR
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
Fil: Rossetti, Liliana Carmen. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
description The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
publishDate 2011
dc.date.none.fl_str_mv 2011-10
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/84639
Rossetti, Liliana Carmen; Radic, Claudia Pamela; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel; Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR; Molecular Diversity Preservation International; International Journal of Molecular Sciences; 12; 10; 10-2011; 7271-7285
1422-0067
CONICET Digital
CONICET
url http://hdl.handle.net/11336/84639
identifier_str_mv Rossetti, Liliana Carmen; Radic, Claudia Pamela; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel; Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR; Molecular Diversity Preservation International; International Journal of Molecular Sciences; 12; 10; 10-2011; 7271-7285
1422-0067
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.mdpi.com/journal/ijms
info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms12107271
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Molecular Diversity Preservation International
publisher.none.fl_str_mv Molecular Diversity Preservation International
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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